“C”型三角头畸形综合征：1例胼胝体发育不全合并法洛四联症患儿的报告及文献复习

"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review.

作者信息

Glickstein J, Karasik J, Caride D G, Marion R W

机构信息

Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York 10467, USA.

出版信息

Am J Med Genet. 1995 Mar 27;56(2):215-8. doi: 10.1002/ajmg.1320560220.

DOI:10.1002/ajmg.1320560220

PMID:7625448

Abstract

We report on a new case of the Opitz "C" trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review shows that a combination of conotruncal heart defects and midline brain anomalies characterizes patients with this entity.

摘要

我们报告一例新的Opitz“C”三角头畸形综合征病例。我们的患者存在胼胝体发育不全，这种异常此前仅见两例，还有法洛四联症，此前仅有一次描述。一项综述显示，圆锥动脉干心脏缺陷和中线脑异常的组合是该疾病患者的特征。